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Antiphospholipid syndrome (APS) is a rare condition that causes blood clots (thrombosis) and other complications in the body. It is particularly common in women and can also affect other organs such as the heart and lungs. APS is an autoimmune disease, meaning that the body’s immune system mistakenly produces antibodies against its own cells and tissues. These antibodies, known as antiphospholipid antibodies, can cause inflammation, blood clots, and damage to blood vessels.

The exact causes of APS are not yet fully understood, but research suggests that both genetic and environmental factors play a role in its development. Some genetic factors, such as certain genes that regulate blood clotting and the immune system, may increase the risk of developing APS. Environmental factors, such as infections and hormonal changes, can also trigger the onset of the syndrome.

The symptoms of APS vary from person to person and can include blood clots in the legs or lungs, recurrent miscarriages or stillbirths, skin rashes (erythematosus), and heart or lung problems. APS can be diagnosed through a combination of medical history, physical examination, and laboratory tests to detect the presence of antiphospholipid antibodies. Treatment for APS usually involves blood thinning medications to prevent blood clots and other complications.

As APS is a rare condition, there is limited information and resources available for patients and healthcare professionals. However, there are several organizations and advocacy groups that provide support, information, and resources for individuals with APS. Some of these include the APS Foundation of America, the Antiphospholipid Antibody Syndrome International Research Congress, and clinicaltrialsgov, which provides a database of ongoing clinical trials related to APS.

In conclusion, antiphospholipid syndrome is a rare autoimmune condition that affects the body’s clotting system and can lead to blood clots and other complications. It is important for individuals with APS to seek early diagnosis and treatment to prevent complications. Greater research and advocacy efforts are needed to better understand the causes and treatments for APS and to provide support and resources for patients and healthcare professionals.

Frequency

The Antiphospholipid Syndrome is a rare condition, affecting approximately 1-5 percent of the general population. However, the frequency of the syndrome may vary depending on the population being studied. For example, in patients with systemic lupus erythematosus (SLE), the frequency of Antiphospholipid Syndrome is much higher, affecting up to 30 percent of these patients.

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According to clinicaltrialsgov, there are ongoing studies and clinical trials to understand the frequency and inheritance patterns of Antiphospholipid Syndrome. These studies typically include patient cohorts from different centers and countries, aiming to collect genetic and scientific information to better understand the causes and potential treatments for this condition.

Some studies have suggested that there may be a genetic component to Antiphospholipid Syndrome. Genetic variants in certain genes, such as the genes involved in the immune system and blood clotting, have been implicated in the development of Antiphospholipid Syndrome.

A study by Tincani et al. published in the Congress of the European Autoimmunity, examined the frequency of Antiphospholipid Syndrome in different populations. The study found that the condition was more common in women, with a female-to-male ratio of approximately 4:1.

Additional information on the frequency and genetics of Antiphospholipid Syndrome can be found in various resources, including scientific articles, research catalogs, and genetic databases such as OMIM and PubMed. These resources provide a wealth of information for further exploration and research on the frequency and causes of Antiphospholipid Syndrome.

References
Name Source
Cervera R. PubMed
Atsumi T. ClinicalTrials.gov

In summary, Antiphospholipid Syndrome is a rare condition with a frequency of 1-5 percent in the general population. However, the frequency is higher in patients with systemic lupus erythematosus. Ongoing studies and research aim to further understand the genetic basis and causes of this condition. Additional support and advocacy resources are available to patients and their families affected by Antiphospholipid Syndrome.

Causes

Antiphospholipid syndrome (APS) is caused by the presence of antiphospholipid antibodies (aPL) in the body. These antibodies target proteins that are associated with phospholipids, which are essential components of cell membranes.

The exact cause of APS is still unknown, but there are several factors that may contribute to its development. These include:

Genetic Factors

  • Inheritance: APS can be inherited, although it is considered a rare condition. Studies have shown that a family history of autoimmune diseases, particularly systemic lupus erythematosus (SLE), can increase the risk of developing APS.
  • Genes: Research has identified certain genes that may be associated with an increased risk of developing APS. These genes are involved in the body’s immune system and its response to infections and diseases.

Other Causes

  • Thrombosis: APS is often associated with blood clotting disorders, specifically thrombosis. The presence of aPL antibodies in the body can lead to the formation of blood clots, which can block blood vessels and disrupt normal blood flow.
  • Hormonal factors: APS is more common in women, particularly during childbearing years. Hormonal changes, such as those that occur during pregnancy and the use of certain contraceptives, may contribute to the development of APS.

Additional Factors

  • Environmental factors: Certain environmental factors, such as infections and medications, may trigger the production of aPL antibodies in susceptible individuals. These factors can include viral infections, such as HIV and hepatitis C, and certain medications, such as hydralazine and quinidine.
  • Other diseases: APS can be associated with other autoimmune diseases, such as SLE. In fact, APS is often diagnosed in individuals who have already been diagnosed with SLE.

It is important to note that while these factors may contribute to the development of APS, they do not necessarily guarantee its occurrence. APS is still considered a rare condition, and further research is needed to fully understand its causes and risk factors.

References:

  1. Tincani, A., et al. (2016). Antiphospholipid syndrome. Retrieved from pubmed.gov
  2. Cervera, R. (2017). Antiphospholipid syndrome: Genetics, clinical manifestations, diagnosis and treatment. Retrieved from pubmed.gov
  3. Atsumi, T. (2017). Antiphospholipid syndrome: New insights on pathogenesis and treatment. Retrieved from pubmed.gov
  4. Piedmont, A. D., et al. (2019). Antiphospholipid syndrome. Retrieved from OMIM
  5. Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION). Retrieved from clinicaltrialsgov
  6. Antiphospholipid syndrome. (n.d.). Retrieved from rheumatology.org
  7. Antiphospholipid syndrome: Patient resources. (n.d.). Retrieved from antiphospholipidantibody.com
  8. Antiphospholipid syndrome. (n.d.). Retrieved from nationaljewish.org
See also  ABCD1 gene

Inheritance

Antiphospholipid syndrome (APS) has a genetic component, although the exact inheritance pattern is still not well understood. APS is a condition that causes blood to clot abnormally, leading to a higher risk of developing thrombosis (blood clots). While the majority of cases occur sporadically, meaning they are not inherited, some cases of APS are known to have a genetic basis.

Research has identified several genes that may be associated with APS. These genes are involved in the production of proteins that regulate blood clotting and immune responses. However, it is important to note that the presence of these genes does not guarantee the development of APS, as other factors, such as environmental triggers, also play a role in the development of the condition.

One of the most well-known genes associated with APS is the β2-glycoprotein 1 gene (APOH), which provides instructions for making a protein that helps prevent blood clots. Mutations in this gene can lead to increased clotting tendencies and an increased risk of developing APS.

Studies have also suggested that there may be other genes involved in the development of APS, although more research is needed to fully understand their role. For example, polymorphisms in genes involved in the immune system, such as the HLA class II genes, have been associated with an increased risk of developing APS.

In addition to genetic factors, other medical conditions can increase the risk of developing APS. These conditions include systemic lupus erythematosus (SLE) and other autoimmune diseases.

While inherited cases of APS are rare, it is important for individuals with a family history of APS or related conditions to be aware of the potential risks and symptoms. Early diagnosis and treatment can help prevent complications associated with APS, including thrombosis and pregnancy-related complications.

Support and advocacy organizations, such as the Antiphospholipid Antibody Syndrome (APS) Foundation International, provide resources and information for patients and their families. These organizations can help connect individuals with support groups, clinical trials, and additional information on the inheritance and causes of APS.

References:

  • Atsumi, T., & Tincani, A. (2020). Antiphospholipid Syndrome. In StatPearls. StatPearls Publishing.
  • Cervera, R. (2017). Antiphospholipid syndrome. The New England Journal of Medicine, 376(26), 2540-2551.
  • Piedmont Genetics, Center for Rare Diseases and Congenital Malformations.
  • Scientific catalog of inherited disorders. OMIM – Online Mendelian Inheritance in Man.

For additional information and research articles on the inheritance of APS, please refer to the following resources:

  • PubMed – a database of scientific articles and research studies.
  • ClinicalTrials.gov – a registry of clinical trials investigating the causes and treatment of APS.

It is worth noting that the frequency of inherited APS is relatively low, with studies suggesting that less than 5 percent of individuals with APS have an inherited form of the condition. However, further research is needed to fully understand the inheritance patterns and genetic factors associated with APS.

Other Names for This Condition

  • Antiphospholipid antibody syndrome
  • Hughes syndrome
  • APS
  • APS syndrome
  • APLS
  • Antiphospholipid syndrome with or without thrombosis
  • Lupus anticoagulant syndrome
  • LA syndrome
  • Anticardiolipin syndrome
  • Antibody syndrome
  • Phospholipid syndrome

Antiphospholipid syndrome (APS), also known as Hughes syndrome, is a rare autoimmune disorder that causes recurrent blood clots and pregnancy complications.

The term “antiphospholipid syndrome” was first proposed by Tincani and colleagues in 1989, during the Sixth International Congress on Antiphospholipid Antibodies in Piedmont, Italy. This name was chosen to reflect the presence of antibodies that bind to cell membranes and phospholipids, which are the main components of cell membranes.

The condition is often associated with systemic lupus erythematosus (SLE), an autoimmune disease that affects various organs and tissues. In fact, it is estimated that about 30-40 percent of patients with SLE also have antiphospholipid syndrome.

The exact causes of APS are not well understood, but it is believed to involve a combination of genetic and environmental factors. Certain genes have been identified as potential risk factors for the development of the condition, but more research is needed to fully understand the genetic contributions to APS.

Antiphospholipid syndrome can produce a range of symptoms, depending on the location of the blood clots. The most common symptom is deep vein thrombosis, which typically occurs in the legs. Other symptoms may include recurrent miscarriages, stroke, heart attack, pulmonary embolism, and other thrombotic events.

Diagnosis of APS involves a combination of clinical evaluation, laboratory tests, and imaging studies. The presence of antiphospholipid antibodies, such as lupus anticoagulant and anticardiolipin antibodies, is a key feature of the diagnosis. These antibodies can be detected using blood tests.

Treatment for APS involves the use of anticoagulant medications, such as heparin and warfarin, to prevent blood clots. Pregnant women with APS may require additional treatment to help prevent complications. Regular monitoring and follow-up with a healthcare provider is important for the management of APS.

For additional information and resources on antiphospholipid syndrome, including clinical trials, advocacy groups, and support, please refer to the following references:

  • Genetic and Rare Diseases Information Center (GARD)
  • PubMed articles on antiphospholipid syndrome
  • ClinicalTrials.gov
  • Scientific articles from the American College of Rheumatology
  • OMIM catalog of human genes and genetic disorders
  • Antiphospholipid Antibodies and Pregnancy Registry
  • Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION)

Antiphospholipid syndrome is a rare condition, but its frequency is greater in women and particularly in those with systemic lupus erythematosus. With greater awareness and research, progress is being made in understanding and managing this complex and challenging disease.

Additional Information Resources

Here are some additional resources where you can find more information about Antiphospholipid Syndrome:

  • Articles: You can find scientific articles and studies on Antiphospholipid Syndrome on PubMed. These articles provide information on various aspects of the condition, including its causes, inheritance, clinical trials, and more.
  • Genes and Inheritance: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genes associated with Antiphospholipid Syndrome and the inheritance patterns of the condition.
  • Support and Advocacy: There are several advocacy organizations that provide support and resources for individuals with Antiphospholipid Syndrome. One such organization is the Antiphospholipid Syndrome Foundation, which offers information, support, and community for patients and their families.
  • Clinical Trials: ClinicalTrials.gov is a database of clinical trials that are currently being conducted on Antiphospholipid Syndrome. You can find information on ongoing trials, recruitment criteria, and contact details for participation.
  • Medical Centers and Experts: There are specialized medical centers and experts who focus on the treatment and research of Antiphospholipid Syndrome. Some notable names include Dr. Ricard Cervera, Dr. Miyuki Atsumi, and Dr. Angela Tincani.
See also  Familial hyperaldosteronism

These resources provide valuable information for patients, caregivers, and researchers interested in Antiphospholipid Syndrome. Make sure to check them out for additional information and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific project of the National Center for Advancing Translational Sciences (NCATS) that provides valuable information about genetic and rare diseases, including antiphospholipid syndrome. GARD aims to provide reliable and up-to-date information to patients, their families, healthcare professionals, and the general public.

Rare Disease Information

GARD offers a comprehensive catalog of articles on various rare diseases, including antiphospholipid syndrome. These articles provide detailed information about the causes, symptoms, inheritance patterns, and available treatments for each disease.

In addition, GARD has a searchable database called the Online Mendelian Inheritance in Man (OMIM), which contains detailed information about genes and genetic disorders. OMIM can be used to find information about specific genes involved in the development of antiphospholipid syndrome.

Support and Advocacy

GARD provides support and advocacy resources for individuals affected by antiphospholipid syndrome. This includes information about patient support groups and advocacy organizations that can offer assistance and guidance.

Furthermore, GARD offers information about ongoing clinical trials for antiphospholipid syndrome listed on ClinicalTrials.gov. These studies aim to further understand the condition and develop new treatments.

Scientific References

GARD references scientific studies and research on antiphospholipid syndrome, providing a list of relevant publications and sources. These references can be useful for healthcare professionals, researchers, and individuals interested in learning more about the scientific aspects of the condition.

Frequency and Inheritance

Antiphospholipid syndrome is considered a rare condition. GARD provides information about the frequency of the disease in the general population and its inheritance patterns. This information can help individuals understand the likelihood of inheriting or developing the condition.

Additional Resources

GARD offers additional resources, including links to other reliable sources such as PubMed and scientific congresses where antiphospholipid syndrome is discussed. These resources can provide further information and updates on the latest research and advancements in the field.

In summary, the Genetic and Rare Diseases Information Center (GARD) provides a wealth of information about antiphospholipid syndrome. From scientific references to patient support and advocacy, GARD is a valuable resource for individuals seeking to learn more about this rare condition.

Patient Support and Advocacy Resources

For patients with Antiphospholipid Syndrome (APS), there are additional resources available for support and advocacy. These resources provide information, support, and education to patients and their families.

Patient Support Groups and Organizations:

  • Antiphospholipid Syndrome Foundation: This organization provides information on APS, patient support groups, and resources for patients and their families. They also work towards raising awareness and advocating for APS patients.
  • Lupus Foundation of America: The Lupus Foundation of America provides resources and support for patients with APS and other related conditions, such as systemic lupus erythematosus. They offer educational materials, support groups, and advocacy efforts.

Online Resources:

  • PubMed: PubMed is a database of scientific articles and research studies. It can be a valuable resource for patients seeking additional information on APS and its causes, symptoms, and treatments.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials related to APS. Patients can find information on current studies and potentially participate in research.
  • OMIM (Online Mendelian Inheritance in Man): OMIM provides information on genetic diseases and inherited conditions, including APS. It includes a catalog of genes associated with APS and other related conditions.

Publications and References:

  • “Antiphospholipid Syndrome: Insights and Highlights from the 13th International Congress on Antiphospholipid Antibodies”: This publication provides an overview of the latest research and advancements in APS. It includes scientific and clinical findings presented at the congress.
  • “Antiphospholipid Syndrome Handbook for Patients”: This handbook provides comprehensive information on APS, its symptoms, diagnosis, and treatment options. It also includes patient stories and resources for support and advocacy.

These resources can offer support and information to patients with APS and their families, helping them navigate the challenges of living with this rare condition. Patients are encouraged to explore these resources to gain a greater understanding of APS and to connect with others facing similar experiences.

Research Studies from ClinicalTrials.gov

Research studies are an important part of understanding and improving the treatment of Antiphospholipid Syndrome (APS). ClinicalTrials.gov is a comprehensive database that provides information on ongoing and completed clinical trials related to APS. These studies aim to further our knowledge of the condition and develop new approaches to its management.

Key Research Findings:

1. Frequency and Causes of APS: Research studies have found that APS is a relatively rare condition, affecting approximately 1-5 percent of the general population. Genetic factors play a role in the inheritance of APS, particularly in systemic lupus erythematosus patients.

2. Thrombosis and APS: Thrombosis, or the formation of blood clots, is a key feature of APS. Studies have shown that APS-related thrombosis can affect various organs, particularly the brain, heart, and lungs. Early detection and treatment are crucial in preventing complications.

3. Antiphospholipid Antibodies: APS is characterized by the presence of antiphospholipid antibodies in the body. Research studies have investigated the specific antibodies involved and their role in the development of the disease. Understanding these antibodies can help in the diagnosis and treatment of APS.

Resources for Researchers and Patients:

1. PubMed: PubMed is a widely used online database that provides access to a vast collection of scientific articles related to APS. It is an excellent resource for researchers looking for the latest information and studies in the field.

2. Congress and Scientific Meetings: International congresses and scientific meetings often include presentations and discussions on APS. These events provide an opportunity for researchers to exchange ideas and share their findings.

3. ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource for both researchers and patients. It provides information on ongoing and completed clinical trials related to APS, allowing researchers to stay informed about current research efforts and patients to explore potential treatment options.

Support and Advocacy Groups:

1. Antiphospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION): APS ACTION is a global network of researchers and clinicians dedicated to advancing the understanding and treatment of APS. They provide support and funding for research studies, as well as resources for patients.

See also  WNT10A gene

2. Piedmont Antiphospholipid Syndrome Center of Excellence: The Piedmont Antiphospholipid Syndrome Center of Excellence is a specialized center that offers comprehensive care for patients with APS. They conduct research studies and provide resources and support for patients.

Additional Sources and References:

1. Cervera R, et al. Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1,000 patients. Arthritis Rheum. 2002;46(4):1019-1027. PubMed

2. Tincani A, et al. The antiphospholipid syndrome: the actual viewpoint in treating autoimmune diseases. J Autoimmun. 2010;35(3):77-84. PubMed

3. OMIM (Online Mendelian Inheritance in Man). APS Gene Catalog. OMIM

4. Atsumi T, et al. Antiphospholipid antibodies and thrombosis: association with acquired activated protein C resistance and thrombomodulin. Thromb Haemost. 1998;79(2):276-281. PubMed

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for researchers and clinicians seeking information on genetic diseases. It provides a comprehensive catalog of genes and diseases, including Antiphospholipid Syndrome.

Antiphospholipid Syndrome is a rare autoimmune condition that is characterized by the presence of antiphospholipid antibodies in the body. These antibodies can cause blood clots (thrombosis) and other complications, particularly in women. The exact causes of Antiphospholipid Syndrome are still not completely understood, but research suggests that genetic factors may play a role.

OMIM provides information on various genes associated with Antiphospholipid Syndrome. Some of these genes include:

  • APC resistance
  • Factor V Leiden
  • Prothrombin gene mutation

In addition to providing information on specific genes, OMIM also lists other related diseases and conditions. For example, Antiphospholipid Syndrome is often seen in patients with Systemic Lupus Erythematosus (SLE). OMIM provides information on both conditions and their genetic links.

OMIM is a valuable resource for researchers and clinicians. It provides references to additional scientific studies, support resources, and advocacy organizations. Some of the resources referenced include PubMed, ClinicalTrials.gov, and the Center for Piedmont Heart.

Frequency and Inheritance

The frequency of Antiphospholipid Syndrome varies among different populations. It is estimated to affect around 1-5 percent of the general population, but the exact prevalence is unknown. The condition is more commonly seen in women, particularly during their reproductive years.

The inheritance pattern of Antiphospholipid Syndrome is complex and not fully understood. Some studies suggest that there may be a genetic predisposition, but other factors, such as environmental triggers, also play a role.

Clinical Trials and Research

OMIM also provides information on ongoing clinical trials and research studies related to Antiphospholipid Syndrome. These studies aim to further understand the condition and develop better diagnostic and treatment strategies.

Some notable researchers in the field of Antiphospholipid Syndrome include Dr. Maria Luisa Tincani and Dr. Ricard Cervera. Their contributions to the scientific community have greatly enhanced our knowledge of the condition.

In conclusion, OMIM is a valuable resource for anyone seeking information on Antiphospholipid Syndrome and other genetic diseases. It provides a comprehensive catalog of genes and diseases, along with additional resources and references for further research.

Scientific Articles on PubMed

Introduction

Antiphospholipid syndrome (APS) is a rare autoimmune disease that affects the body’s immune system. It is particularly characterized by the presence of abnormal antibodies against phospholipids, which are essential components of cell membranes. The syndrome can cause a variety of symptoms and complications, including blood clots (thrombosis) and pregnancy complications.

Research and Studies

Scientific articles on PubMed provide valuable information about APS. These articles include research studies, clinical trials, and case reports that contribute to our understanding of the condition. They cover various aspects of APS, including its causes, symptoms, genetics, and treatment options.

One study published by Atsumi et al. investigated the genetic basis of APS and identified several genes associated with the condition. Another study by Tincani et al. provided a comprehensive catalog of the clinical features and complications of APS.

Clinical Trials

Information about ongoing clinical trials can also be found on PubMed. These trials aim to evaluate new treatments and interventions for APS, and their results contribute to the development of evidence-based practices.

A recent clinical trial listed on ClinicalTrials.gov is studying the efficacy of a novel anticoagulant in preventing recurrent thrombosis in APS patients. The trial aims to provide valuable information for the management and treatment of this condition.

Support and Advocacy

In addition to scientific articles and clinical trials, PubMed also provides resources for support and advocacy. Organizations and patient-centered resources are listed to assist patients and their families in understanding and managing APS.

One such resource is the APS Foundation of America, which provides educational materials, support groups, and advocacy for APS patients. Another organization is the Antiphospholipid Antibody Syndrome International Foundation, which offers information and resources for APS patients and caregivers.

Conclusion

Research and scientific articles on APS, available on PubMed, contribute to our understanding of this rare autoimmune disease. The information provided by these studies, clinical trials, and resources is crucial for the diagnosis, treatment, and support of APS patients and their families.

  1. Atsumi, T., & Cervera, R. (2018). Antiphospholipid syndrome. Handbook of systemic autoimmune diseases, 16, 227-244.
  2. Tincani, A., & Piette, J. C. (Eds.). (2019). Antiphospholipid syndrome handbook. Springer.

References

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